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Literature DB >> 24374867

Fetal intracerebral hemorrhage and cataract: think COL4A1.

E Colin¹, L Sentilhes², A Sarfati², M Mine³, A Guichet¹, C Ploton³, F Boussion², B Delorme⁴, E Tournier-Lasserve³, D Bonneau¹.

Abstract

The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause of prenatal onset intracranial hemorrhage (ICH). We report two cases of prenatal ICH associated with cataract and suggest that COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at ultrasound examination.

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24374867 DOI： 10.1038/jp.2013.135

Source DB: PubMed Journal: J Perinatol ISSN： 0743-8346 Impact factor: 2.521

9 in total

1. Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.

Authors: K D Lichtenbelt; L R Pistorius; S M De Tollenaer; G M Mancini; L S De Vries
Journal: Ultrasound Obstet Gynecol Date: 2012-05-09 Impact factor: 7.299

2. Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty.

Authors: C Garel; J Rosenblatt; M L Moutard; D Heron; A Gelot; M Gonzales; E Miné; J M Jouannic
Journal: Ultrasound Obstet Gynecol Date: 2013-02 Impact factor: 7.299

3. Fetal intracranial hemorrhage (fetal stroke): does grade matter?

Authors: U Elchalal; S Yagel; J M Gomori; S Porat; L Beni-Adani; N Yanai; M Nadjari
Journal: Ultrasound Obstet Gynecol Date: 2005-09 Impact factor: 7.299

4. Ophthalmological features associated with COL4A1 mutations.

Authors: Isabelle Coupry; Igor Sibon; Bruno Mortemousque; François Rouanet; Manuele Mine; Cyril Goizet
Journal: Arch Ophthalmol Date: 2010-04

Review 5. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Authors: Katayoun Vahedi; Sonia Alamowitch
Journal: Curr Opin Neurol Date: 2011-02 Impact factor: 5.710

6. Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.

Authors: R J Vermeulen; C Peeters-Scholte; J J M Van Vugt; J J M G Van Vught; F Barkhof; P Rizzu; S R D van der Schoor; M S van der Knaap
Journal: Neuropediatrics Date: 2011-04-15 Impact factor: 1.947

7. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

Authors: Zeynep Firtina; Brian P Danysh; Xiaoyang Bai; Douglas B Gould; Takehiro Kobayashi; Melinda K Duncan
Journal: J Biol Chem Date: 2009-12-18 Impact factor: 5.157

Review 8. Childhood presentation of COL4A1 mutations.

Authors: Siddharth Shah; Sian Ellard; Rachel Kneen; Ming Lim; Nigel Osborne; Julia Rankin; Neil Stoodley; Marjo van der Knaap; Andrea Whitney; Philip Jardine
Journal: Dev Med Child Neurol Date: 2012-01-16 Impact factor: 5.449

9. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

Authors: Linda S de Vries; Corine Koopman; Floris Groenendaal; Mary Van Schooneveld; Frans W Verheijen; Elly Verbeek; Theo D Witkamp; H Bart van der Worp; Grazia Mancini
Journal: Ann Neurol Date: 2009-01 Impact factor: 10.422

9 in total

1. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Authors: A M Slavotinek; S T Garcia; G Chandratillake; T Bardakjian; E Ullah; D Wu; K Umeda; R Lao; P L-F Tang; E Wan; L Madireddy; S Lyalina; B A Mendelsohn; S Dugan; J Tirch; R Tischler; J Harris; M J Clark; S Chervitz; A Patwardhan; J M West; P Ursell; A de Alba Campomanes; A Schneider; P-Y Kwok; S Baranzini; R O Chen
Journal: Clin Genet Date: 2015-01-06 Impact factor: 4.438

9. Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation.

Authors: Lisa Grego; Silvia Pignatto; Nicolò Rassu; Eva Passone; Paola Cogo; Paolo Lanzetta
Journal: Case Rep Ophthalmol Date: 2019-12-17

9 in total

Fetal intracerebral hemorrhage and cataract: think COL4A1.

1. Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage.

2. Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty.

3. Fetal intracranial hemorrhage (fetal stroke): does grade matter?

4. Ophthalmological features associated with COL4A1 mutations.

Review 5. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

6. Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.

7. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

Review 8. Childhood presentation of COL4A1 mutations.

9. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

1. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

2. Basement membrane and stroke.

Review 3. Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

4. COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.

5. Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.

Review 6. Genetic Profiling of Idiopathic Antenatal Intracranial Haemorrhage: What We Know?

7. Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.

8. Neuropathology of genetically defined malformations of cortical development-A systematic literature review.

9. Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation.